Brachydactyly, and Hirsutism

Diseases related with Brachydactyly and Hirsutism

In the following list you will find some of the most common rare diseases related to Brachydactyly and Hirsutism that can help you solving undiagnosed cases.


Top matches:

Low match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAPSS2 TYPE


Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAPSS2 TYPE Is also known as spondylodysplasia and premature pubarche|semd, pakistani type|spondyloepimetaphyseal dysplasia, pakistani type

Related symptoms:

  • Short stature
  • Scoliosis
  • Brachydactyly
  • Gait disturbance
  • Kyphoscoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAPSS2 TYPE

Low match RABSON-MENDENHALL SYNDROME


Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes; see these terms).

Related symptoms:

  • Short stature
  • Peripheral neuropathy
  • Brachydactyly
  • Intrauterine growth retardation
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about RABSON-MENDENHALL SYNDROME

Low match MÜLLERIAN APLASIA AND HYPERANDROGENISM


Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence or underdevelopment of the uterus, and sometimes absence or underdevelopment of the vagina.

MÜLLERIAN APLASIA AND HYPERANDROGENISM Is also known as wnt4 deficiency|mÜllerian duct failure and hyperandrogenism|mullerian duct failure and hyperandrogenism

Related symptoms:

  • Short stature
  • Cleft palate
  • High palate
  • Brachydactyly
  • Short neck


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MÜLLERIAN APLASIA AND HYPERANDROGENISM

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Other less relevant matches:

Low match ERYTHROKERATODERMIA VARIABILIS


The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997). The condition is usually present at birth or occurs during the first year but may begin later in childhood or even in early adulthood. Lesions preferentially affect the face, buttocks, and extensor surfaces of the limbs. Palmoplantar keratoderma occurs in about half the cases, but hair, nails, and teeth are not affected (summary by Macfarlane et al., 1991). Genetic Heterogeneity of Erythrokeratodermia Variabilis et ProgressivaSee EKVP2 (OMIM ), caused by mutation in the GJB4 gene (OMIM ); EKVP3 (OMIM ), caused by mutation in the GJA1 gene (OMIM ); EKVP4 (OMIM ), caused by mutation in the KDSR gene (OMIM ); and EKVP5 (OMIM ), caused by mutation in the KRT83 gene (OMIM ).

ERYTHROKERATODERMIA VARIABILIS Is also known as psek|erythrokeratodermia variabilis et progressiva|ekvp|ekv|erythrokeratodermia variabilis, mendes da costa type|erythrokeratodermia figurata, congenital familial, in plaques|erythrokeratodermia, progressive symmetric|erythrokeratodermia variabilis with e

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about ERYTHROKERATODERMIA VARIABILIS

Low match INSULIN-RESISTANCE SYNDROME TYPE A


Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome; see these terms) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.

INSULIN-RESISTANCE SYNDROME TYPE A Is also known as diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a|insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans|iran, type a

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Brachydactyly
  • Abnormality of the dentition
  • Intellectual disability, mild


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INSULIN-RESISTANCE SYNDROME TYPE A

Low match FGFR2-RELATED BENT BONE DYSPLASIA


FGFR2-related bent bone dysplasia is a rare, genetic, lethal, primary bone dysplasia characterized by dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophtalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis, and bent long bones (particularly involving the femora), caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoesis may also be associated.

FGFR2-RELATED BENT BONE DYSPLASIA Is also known as perinatal lethal bent bone dysplasia

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape
  • Low-set ears
  • Brachydactyly


SOURCES: ORPHANET OMIM MENDELIAN

More info about FGFR2-RELATED BENT BONE DYSPLASIA

Low match SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME


SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME Is also known as sbidds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME

Low match CORNELIA DE LANGE SYNDROME 3; CDLS3


Cornelia de Lange syndrome is a multisystem developmental disorder characterized by distinctive facial dysmorphism, pre- and postnatal growth failure, delayed psychomotor development and intellectual disability, hypertrichosis, and sometimes distal limb malformations (summary by Gil-Rodriguez et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 3; CDLS3

Low match RIN2 SYNDROME


RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

RIN2 SYNDROME Is also known as rin2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macs syndrome|macrocephaly, alopecia, cutis laxa, a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RIN2 SYNDROME

Low match HYDRANENCEPHALY


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981).For a discussion of genetic heterogeneity of Kabuki syndrome, see KABUK1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDRANENCEPHALY

Top 5 symptoms//phenotypes associated to Brachydactyly and Hirsutism

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
High palate Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Hirsutism. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short neck Cleft palate Hypertrichosis Generalized hirsutism Protruding ear Abnormality of the dentition Diabetes mellitus Obesity Global developmental delay Long philtrum

Rare Symptoms - Less than 30% cases


Epidermal acanthosis Depressed nasal bridge Hyperkeratosis Alopecia Decreased body weight Hearing impairment Hypertelorism Generalized hypotonia Thick eyebrow Synophrys Growth delay Strabismus Cryptorchidism Seizures Short foot Broad nasal tip Anteverted nares Highly arched eyebrow Narrow forehead Pulmonic stenosis Feeding difficulties in infancy Micrognathia Retrognathia Abnormal facial shape Behavioral abnormality Malar flattening Cognitive impairment Gingival overgrowth Natal tooth Thin vermilion border Long eyelashes Ptosis Acanthosis nigricans Acne Thickened skin Polycystic ovaries Growth hormone excess Intrauterine growth retardation Mandibular prognathia Bowing of the legs Coarse facial features Short metacarpal Dry skin Amenorrhea Skeletal dysplasia Recurrent otitis media Long palpebral fissure Myopia Atrioventricular canal defect Bulbous nose Cupped ear Smooth philtrum Clinodactyly Prominent nasal bridge Clinodactyly of the 5th finger Brachycephaly Gastroesophageal reflux Thin upper lip vermilion Infra-orbital crease Postnatal growth retardation Poor speech Abnormal cardiac septum morphology Frontal hirsutism Delayed ability to walk Central hypotonia Severe global developmental delay Abnormality of the breast Prominent fingertip pads Long hallux Epicanthus Wide nasal bridge Frontal bossing Abnormality of the skeletal system Sparse lateral eyebrow Deeply set eye Astigmatism Pseudohypoparathyroidism Generalized joint laxity Short 5th finger Depressed nasal tip Delayed myelination Short palpebral fissure Short columella Laryngomalacia Short metatarsal Neonatal hypoglycemia Underdeveloped supraorbital ridges Downturned corners of mouth Urethral stenosis Small hand Hyperextensible skin Thick lower lip vermilion Sparse scalp hair Severe short stature Bronchiectasis Atrial septal defect Infra-orbital fold Upper eyelid edema Sparse and thin eyebrow Hypergonadotropic hypogonadism Cutis laxa Redundant skin High myopia Increased susceptibility to fractures Aortic aneurysm Premature ovarian insufficiency High pitched voice Prolonged bleeding time Abnormality of the sternum Palpebral edema Abnormality of the vasculature Generalized osteoporosis Eclabion Abnormal lip morphology Hypodontia Overgrowth Irregular dentition Hernia Low anterior hairline Finger clinodactyly Coarctation of aorta Proximal placement of thumb Cutis marmorata Thick hair Limited elbow movement Muscular hypotonia Macrocephaly Downslanted palpebral fissures Dilatation Osteoporosis Single transverse palmar crease Hypogonadism Umbilical hernia Pes planus Joint laxity Sparse hair Otitis media Ichthyosis Joint hypermobility Bruising susceptibility Dental malocclusion Everted lower lip vermilion Thick vermilion border Bell-shaped thorax Delayed speech and language development Cataract Hypoplasia of the uterus High anterior hairline Abnormality of the ovary Shield chest Aplasia of the uterus Abnormal vagina morphology Frontal balding Increased serum testosterone level Facial hirsutism Aplasia of the vagina Aplasia/Hypoplasia of the fallopian tube Abnormality of cardiovascular system morphology Cubitus valgus Hyperhidrosis Glaucoma Weight loss Erythema Skin rash Corneal opacity Pruritus Tapered finger Palmoplantar keratoderma Abnormal blistering of the skin Cutaneous photosensitivity Unilateral renal agenesis Primary amenorrhea Abnormality of the nail Premature pubarche Gait disturbance Kyphoscoliosis Platyspondyly Short femoral neck Secondary amenorrhea Irregular vertebral endplates Delayed epiphyseal ossification Spondyloepimetaphyseal dysplasia Enlarged joints Lower limb undergrowth Lumbar scoliosis Peripheral neuropathy Renal agenesis Proteinuria Coarse hair Precocious puberty Abnormality of the thyroid gland Prematurely aged appearance Thick nail Long penis Advanced eruption of teeth Abnormality of the upper urinary tract Abnormality of the abdominal wall Female pseudohermaphroditism Short philtrum Abnormality of the hair Neoplasm of the skin Abnormality of the periosteum Abnormally large globe Low-set ears Midface retrusion Osteopenia Hepatosplenomegaly Craniosynostosis Short chin Abnormality of the outer ear Clitoral hypertrophy Short clavicles Megalocornea Coronal craniosynostosis Congenital stationary night blindness Menstrual irregularities Abnormality of the lower limb Decreased skull ossification Lethal skeletal dysplasia Extramedullary hematopoiesis Hypoplastic ischia Hypoplastic pubic bone Decreased calvarial ossification Overfolding of the superior helices Metopic depression Steep acetabular roof Incomplete ossification of pubis Generalized hypertrichosis Macroorchidism Palmoplantar hyperkeratosis Macrotia Scaling skin Hypermelanotic macule Macule Irregular hyperpigmentation Abnormality of the testis Hypergranulosis Generalized hyperkeratosis Diffuse palmoplantar keratoderma Diffuse palmoplantar hyperkeratosis Patchy palmoplantar keratoderma Intellectual disability, mild Carious teeth Prolactin excess Delayed puberty Muscle cramps Macroglossia Type II diabetes mellitus Subcutaneous nodule Insulin resistance Accelerated skeletal maturation Hyperinsulinemia Increased number of teeth Generalized hyperpigmentation Insulin-resistant diabetes mellitus Ketoacidosis Eversion of lateral third of lower eyelids



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