Hypoplastic First Metacarpals: Causes & Reasons

Possible Causes for Hypoplastic First Metacarpals

Odonto Tricho Ungual Digito Palmar Syndrome

[…] femoral necks; hypoplastic iliac bodies and shallow acetabulae; irregular metaphyseal mineralization and demarcation of the long tubular bones; short first and fifth metacarpals [mendelian.co]

Major radiographic characteristics are late-maturing ovoid vertebral bodies with concave dorsal surfaces in the lumbar region; small capital femoral epiphyses; hypoplastic [mendelian.co]

Oculootoradial Syndrome

Names and Terminology for IVIC syndrome Other Names : Instituto Venezolano de Investigaciones Cientificas syndrome; Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia ; Oculootoradial syndrome; Instituto Venezolano de Investigaciones Cientificas syndrome; Radial ray defects, hearing[…] [familydiagnosis.com]

Fibrodysplasia Ossificans Progressiva

Fibrodysplasia Ossificans Progressiva (FOP) is a rare inherited disease in which progressive ossification of striated muscles leads to severe disability and respiratory impairment early in life and there are associated characteristic congenital skeletal malformations. Although this condition may prove demanding for the[…] [bjanaesthesia.org.uk]

Desbuquois Dysplasia Type 1

1 Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis. 57 6 61 31988067 2020 2 Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis. 6 57 Nizon M...Cormier-Daire V 22539336 2012 3 Desbuquois dysplasia type I[…] [malacards.org]

Omodysplasia Type 2

Thank you for visiting the new GARD website. Many GARD web pages are still in development. Learn more. We would like to hear your feedback as we continue to refine this new version of the GARD website. Thank you for visiting the new GARD website. Many GARD web pages are still in development. Learn more. We would[…] [rarediseases.info.nih.gov]

Brachydactyly Type B2

Summary HTML view is not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button. Postmeiotic segregation (PMS) of genetic variants occurs when a DNA heteroduplex formed during meiotic recombination goes undetected by repair enzymes and is[…] [cambridge.org]

Aplasia or Hypoplasia of Halluces

[…] thumbs Aplastic/hypoplastic distal phalanges Aplastic/hypoplastic first metacarpal Transverse palmar creases Aplastic/hypoplastic middle phalanges Short, tapering fingers [mnglabs.com]

Cerebellar hypoplasia (in some patients) Pachygyria Prenatal Manifestations Amniotic Fluid Polyhydramnios Delivery Preterm delivery - Hydrops fetalis Skeletal Hands Aplastic/hypoplastic [mnglabs.com]

Omodysplasia

Additional features of the daughter were short first metacarpal, short fibulae, widening of femoral neck, hypoplasia of the T11 vertebral body and retrolisthesis. [fdna.health]

Additional features in the mother were bilateral cleft lip and cleft palate, hypoplastic labia and clitoris, and didelphic uterus. [fdna.health]

Absent Radius - Anogenital Anomalies Syndrome

pulmonary, ophthalmologic, thalidomide ingestion, mandibular facial dysostosis, trisomy 18, & thrombocytopenia; - hypoplastic slender first metacarpal can be present in [wheelessonline.com]

Anomalies: - hypoplastic first metacarpal may be an isolated or familial anomaly; - renal, skeletal, central nervous system, cardiovascular, GI, ear, palate, lip, face, genital [wheelessonline.com]

[…] with absent muscles, or the hand may have a very shortened metacarpal with almost no muscles; - individual phalanges of the thumb may be absent, small, or misshapen; - Associated [wheelessonline.com]

Holt-Oram Syndrome

They range from clinodactyly, absent or digitalised thumb, hypoplastic or absent radii, and first metacarpal to hypoplastic ulna and carpal bone anomalies. [ijms.sums.ac.ir]

Two patients had absent thumbs and first metacarpals, hypoplastic radii, and atrial and ventricular septal defects. [ncbi.nlm.nih.gov]

The left thumb was hypoplastic with absence of the first metacarpal. [pubs.rsna.org]

Ateliotic Dwarfism

first metacarpal, other metacarpals too broad, especially at growing end, carpal bones with too many centres ossified (12 Dec 1998) disproportionate dwarfism Dwarfism in [kmle.co.kr]

[…] joints subluxed, spine: kyphoscoliosis with gradual decrease in interpediculate distance toward caudal end of lumbar spine, hands, hitch-hiker's thumb - widely abducted, hypoplastic [kmle.co.kr]

Radial Ray Hypoplasia - Choanal Atresia Syndrome

metacarpal and thumb to hypoplastic thumb or triphalangeal thumb.Genetic counselingThe condition is most probably hereditary, transmitted as an autosomal dominanttrait.Visit [malacards.org]

Clinical description The radial ray involvement varies from absent radius, first metacarpal and thumb to hypoplastic thumb or triphalangeal thumb. [rarediseases.info.nih.gov]

Radiography showing short radius, absent trapezium, scaphoid, first metacarpal and phalanges of thumb. Fig. 2. [academic.oup.com]

Preaxial Brachydactyly - Hallux Varus Syndrome

The radiographic findings were short first metacarpals and first meta- tarsals and hypoplastic phalanges of first two digits of hands and feet. [docslide.com.br]

There were short first metacarpals and hypoplastic phalanges of the thumb and index finger with incomplete syndactyly. [bhj.org.in]

Radiograph of hands showing hypoplastic termi- nal phalanges of thumbs and index fingers and short first metacarpals. Fig. 7. Patient 2. [docslide.com.br]

Acro-Fronto-Facio-Nasal Dysostosis

Radiological abnormalities included craniosynostosis, increased mandibular angle and antegonial notching of mandible; hypoplastic first metacarpals and metatarsals; hypoplastic [wwww.unboundmedicine.com]

[…] bridge and anteverted nares, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, sensorineural and conductive deafness, proximally placed first [wwww.unboundmedicine.com]

Short Stature - Optic Atrophy - Pelger-Huët Anomaly Syndrome

metacarpals, hypoplastic metacarpals, hypoplastic cervical vertebrae with suspected subluxation • recurrent infections: sepsis, pneumonia, otitis media, sinusitis, hepatitis [epostersonline.com]

• short neck • brachydactyly • normal intellect • Skeletal findings: delayed bone age, calvarial defects, cone-shaped epiphyses of phalanges, partial pseudoepiphyses of first [epostersonline.com]

Autosomal Dominant Mandibulofacial Dysostosis with Ptosis

Radiological abnormalities included craniosynostosis, increased mandibular angle and antegonial notching of mandible; hypoplastic first metacarpals and metatarsals; hypoplastic [docslide.us]

Hand-Foot-Genital Syndrome

[…] thenar eminences; Second finger ulnar deviation; Fifth finger clinodactyly; Fifth finger brachydactyly; Carpal delayed ossification; Short first metacarpal; Hypoplastic middle [genome.jp]

[…] phalanges; Pseudoepiphyses; [Feet]; Absent halluces; Short halluces; Medially deviated halluces; Brachydactyly (2nd-5th toes); Tarsal delayed ossification; Short first metatarsal [genome.jp]

[…] pyelonephritis; Renal insufficiency; Renal transplant; [Ureters]; Vesicoureteral reflux; Ureteropelvic junction obstruction SKELETAL: [Hands]; Short thumbs; Proximally placed thumbs; Hypoplastic [genome.jp]

Fanconi Anemia

The patient has a hypoplastic thumb with absent first metacarpal, hypoplastic phalanges and a pedunculated soft tissue connection to the lateral hand (arrow). [nature.com]

(only with abnormal thumbs [ie, terminal defects]), absent or weak pulse Hands - Clinodactyly, hypoplastic thenar eminence, 6 fingers, absent first metacarpal, enlarged abnormal [emedicine.medscape.com]

[…] eminence, absent first metacarpal, clinodactyly, polydactyly – Head : Microcephaly, hydrocephaly – Face: dysmorphic, micrognathia, mid-face hypoplasia – Neck: Sprengel’s [cancertherapyadvisor.com]

Spondyloepiphyseal Dysplasia Type Byers

The Hitchhiker's Thumb consists of : •Oval and hypoplastic first metacarpal. •Abducted proximally positioned thumb. •Low set first digit. [slideshare.net]

Spondyloepimetaphyseal Dysplasia Type Matrilin-3

The Hitchhiker's Thumb consists of : •Oval and hypoplastic first metacarpal. •Abducted proximally positioned thumb. •Low set first digit. [slideshare.net]

Lethal Occipital Encephalocele - Skeletal Dysplasia Syndrome

The Hitchhiker's Thumb consists of : •Oval and hypoplastic first metacarpal. •Abducted proximally positioned thumb. •Low set first digit. [slideshare.net]

Schinzel-Giedion Syndrome

[…] dermal ridges transverse palmar creases distal phalangeal hypoplasia postaxial polydactyly short first metacarpals talipes equinovarus fifth toe overlapping fourth distal [humpath.com]

Metopic suture patent to nasal root Hepatoblastoma Hypoplasia of first ribs Primitive neuroectodermal tumor Sacrococcygeal teratoma Hypoplastic labia minora Thickened cortex [mendelian.co]

[…] phalangeal hypoplasia hypertrichosis facial hemangioma hypoplastic dermal ridges transverse palmar creases hyperconvex nails mental retardation seizures opisthotonus spasticity [humpath.com]

Anauxetic Dysplasia

Major radiographic characteristics are late-maturing ovoid vertebral bodies with concave dorsal surfaces in the lumbar region; small capital femoral epiphyses; hypoplastic [diseaseinfosearch.org]

Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

A, Unusually shaped and extra carpal bone in a 6.5-year-old child; undermodeled metacarpals; epiphyseal irregularity; hypoplastic, almost ovoid first metacarpal (hitchhiker [radiologykey.com]

Major radiographic characteristics are late-maturing ovoid vertebral bodies with concave dorsal surfaces in the lumbar region; small capital femoral epiphyses; hypoplastic [mendelian.co]

Adactyly of Foot

An index metacarpal can be excised during first web space reconstruction and used as bone graft to increase length of the thumb or long finger. [78stepshealth.us]

Intercalary bone grafting and on-top plasty are most applicable during first web space reconstruction (see Case 79, Hypoplastic Digits and Hands). [78stepshealth.us]

Microcephalic Osteodysplastic Primordial Dwarfism Type II

[…] pseudoepiphyses Metaphyseal flaring Proximal femoral epiphysiolysis Short bowed radii Short bowed ulnae Short distal phalanges Short first metacarpals Small iliac wings V-shaped [datagenno.com]

[…] flaring of distal femoral metaphyses Thorax Hypoplastic scapulae (in some patients) Long, slender, straight clavicles (in some patients) Narrow chest (in some patients) [datagenno.com]

[…] acetabular angles High, narrow pelvis Ivory and cone-shaped epiphyses (in some patients - disappears with age) Large sella turcica (rare) Long second toe (in some patients) Metacarpal [datagenno.com]

Cystitis

The first and fifth metacarpals are short and wide with small, late-ossifying epiphyses and bullet-shaped middle phalanges (summary by Barraza-Garcia et al., 2017). [ncbi.nlm.nih.gov]

Femoral heads and necks are hypoplastic, as are the iliac bodies. Long bones show irregular mineralization of the metaphyses. [ncbi.nlm.nih.gov]

Cornelia De Lange Syndrome

Hand and wrist X-ray revealed short first metacarpal, clinodactyly of fingers, and hypoplastic appearance of epiphyseal center in relation to ulna [Figure 3]c. [jiaomr.in]

metacarpal, clinodactyly of fingers and hypoplastic appearance of epiphyseal centre in relation to ulna Click here to view CdLS is a complex congenital anomaly or mental [jiaomr.in]

[…] reveals partial anodontia, (b) Cephalogram revealed protruded maxillary incisors, horizontal growth pattern and delayed growth spurt, (c) Hand and wrist xray revealed short first [jiaomr.in]

Polydactyly of a Biphalangeal Thumb

With a pollicization the malpositioned thumb is repositioned, rotated and shortened, [8] the above-described rotation reduction osteotomy of the first metacarpal can be performed [en.wikipedia.org]

For type VI of the Buck-Gramcko classification, the surgical treatment typically consists of removing the additional mostly hypoplastic thumb(s). [en.wikipedia.org]

Proximal Symphalangism Type 1B

The first through fourth metacarpals are hypoplastic and deformed, and there is symphalangism ( arrow ) at the fifth ray, as well as syndactyly between the fourth and fifth [radiologykey.com]

The first ray is deformed and partially fused (Image copyright Shriners Hospital for Children Northern California) 4 Split Hand Split-hand defect, also known as cleft hand [radiologykey.com]