Abnormal facial shape, and Abnormality of skin pigmentation

Diseases related with Abnormal facial shape and Abnormality of skin pigmentation

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Abnormality of skin pigmentation that can help you solving undiagnosed cases.


Top matches:

Low match IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN

infections.

IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN Is also known as ;primary immunodeficiency syndrome with short stature

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Pneumonia
  • Immunodeficiency
  • Coarse facial features


SOURCES: ORPHANET MONDO UMLS MESH OMIM SCTID

More info about IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN

Low match WINCHESTER SYNDROME; WNCHRS

Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to multicentric osteolysis, nodulosis, and arthropathy (MONA ), but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported (summary by Zankl et al., 2007).

Related symptoms:

  • Short stature
  • Flexion contracture
  • Osteoporosis
  • Coarse facial features
  • Arthritis


SOURCES: GARD SCTID UMLS OMIM MONDO

More info about WINCHESTER SYNDROME; WNCHRS

Low match AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT

Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare disorder expressed in infancy and characterized by isolated thrombocytopenia and megakaryocytopenia with no physical anomalies (Muraoka et al., 1997).King et al. (2005) proposed a new classification of CAMT based on the course and outcome of the disease, as exemplified by 20 patients: CAMT type I (11 patients) was characterized by early onset of severe pancytopenia, decreased bone marrow activity, and very low platelet counts. CAMT type II (9 patients) was somewhat milder and characterized by transient increases of platelet counts up to nearly normal values during the first year of life and an onset of bone marrow failure at age 3 or later.

AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT Is also known as ;camt; congenital amegakaryocytic thrombocytopenic purpura

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Scoliosis
  • Anemia
  • Short neck


SOURCES: ORPHANET NCIT UMLS DOID MESH OMIM SCTID GARD MONDO

More info about AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT

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Other less relevant matches:

Low match NOONAN SYNDROME 7; NS7

Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by Sarkozy et al., 2009).

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: UMLS OMIM

More info about NOONAN SYNDROME 7; NS7

Low match X-LINKED INTELLECTUAL DISABILITY-HYPOTONIA-MOVEMENT DISORDER SYNDROME

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET

More info about X-LINKED INTELLECTUAL DISABILITY-HYPOTONIA-MOVEMENT DISORDER SYNDROME

Low match RAPADILINO SYNDROME

RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.

RAPADILINO SYNDROME Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Hearing impairment
  • Cleft palate
  • Abnormal facial shape


SOURCES: OMIM ORPHANET DOID SCTID MONDO UMLS MESH GARD

More info about RAPADILINO SYNDROME

Low match COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS; COMMAD

Related symptoms:

  • Autosomal recessive inheritance
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: MONDO UMLS OMIM

More info about COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS; COMMAD

Low match AL-RAQAD SYNDROME; ARS

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: UMLS OMIM MONDO

More info about AL-RAQAD SYNDROME; ARS

Low match MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS

Congenital melanocytic nevus syndrome is characterized by pigmentary skin defects apparent at birth. Most individuals have 1 or more large or giant lesions greater than 20 cm and up to over 60 cm in diameter, which may cover up to 80% of total body area. These lesions may or may not be hairy. Smaller 'satellite' pigmented lesions numbering in the hundreds may also be present all over the body. Congenital melanocytic nevi (CMN) can be associated with malignant melanoma (see CMM1, {155600}), but the risk appears to be low, ranging from 1 to 2% for all individuals, but rising to 10 to 15% in those with very large nevi (greater than 40 cm). A small subset of patients with CMNS have abnormalities of the central nervous system, known as 'neurocutaneous melanosis' or 'neuromelanosis' (OMIM ), which may be symptomatic. Patients with CMNS also tend to have a characteristic facial appearance, including wide or prominent forehead, periorbital fullness, small short nose with narrow nasal bridge, round face, full cheeks, prominent premaxilla, and everted lower lip (summary by Kinsler et al., 2008; Kinsler et al., 2012).Spitz nevi are benign melanocytic melanomas composed of epithelioid or spindle cell melanocytes. They usually present as solitary skin tumors but can occur in multiple patterns, having agminated, dermatomal, and disseminated forms (summary by Sarin et al., 2013). Nevus spilus, also known as speckled lentiginous nevus, is a congenital hyperpigmented patch that progressively evolves, with affected individuals developing dark macules and papules during childhood and adolescence. Over time, nevus spilus may give rise to common lentigines, melanocytic nevi, Spitz nevi, and melanomas (summary by Sarin et al., 2014).

MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS Is also known as giant pigmented hairy nevus;gphn, giant congenital pigmented nevus, pigmented moles;congenital pigmented nevus; gmn; giant congenital melanocytic nevus; giant pigmented hairy nevus; lcmn

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Pica
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM NCIT SCTID ORPHANET

More info about MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS

Low match SÉZARY SYNDROME

Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).

SÉZARY SYNDROME Is also known as sézary lymphoma

Related symptoms:

  • Abnormal facial shape
  • Peripheral neuropathy
  • Hepatomegaly
  • Skeletal muscle atrophy
  • Splenomegaly


SOURCES: NCIT UMLS MESH EFO SCTID MONDO ORPHANET GARD DOID

More info about SÉZARY SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Abnormality of skin pigmentation

Symptoms // Phenotype % cases
Autosomal recessive inheritance Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Coarse facial features Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Abnormality of skin pigmentation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment

Rare Symptoms - Less than 30% cases


Atrial septal defect Melanocytic nevus Autosomal dominant inheritance Hypertelorism Low-set ears Seizures Neoplasm of the skin Scoliosis Microcephaly Joint laxity Pruritus Congenital onset Short nose Abnormal cardiac septum morphology Prominent forehead Albinism Hypopigmentation of the skin Neutropenia Immunodeficiency Edema Failure to thrive Inability to walk Sandal gap Hyperplasia of the maxilla Pica Milia Flat face Neoplasm Nevus Hydrocephalus Long philtrum Broad forehead Abnormal immunoglobulin level Papule Unsteady gait Narrow mouth Deeply set eye Generalized hypopigmentation Preauricular pit Premature graying of hair Congenital sensorineural hearing impairment Shallow orbits Osteopetrosis Blue irides Auricular pit Thin upper lip vermilion Global developmental delay Abnormal lymphocyte morphology Growth delay Motor delay Brachydactyly Absent speech Everted lower lip vermilion Lichenification Full cheeks Round face Lymphadenopathy Dry skin Nail dystrophy Periorbital fullness Thick hair Rhabdomyosarcoma Narrow nasal ridge Cutaneous melanoma Prominence of the premaxilla Lymphoma Epidermal nevus Congenital giant melanocytic nevus Peripheral neuropathy Alopecia Hepatomegaly Skeletal muscle atrophy Splenomegaly Palmoplantar keratoderma Calvarial skull defect Tremor Macule Broad nasal tip Abnormality of the pleura Gangrene Irregular hyperpigmentation Open mouth Subcutaneous nodule Generalized hirsutism Hypopigmented skin patches Abnormality of the face Sarcoma Congenital cataract Erythroderma Ectropion Deep philtrum Melanoma Hypermelanotic macule Microcornea Slender nose Coloboma Amegakaryocytic thrombocytopenia Abnormal form of the vertebral bodies Cerebellar vermis hypoplasia Pancytopenia Bone marrow hypocellularity Thrombocytosis Decreased skull ossification Abnormal hemoglobin Megakaryocytopenia Short neck Cognitive impairment Depressed nasal bridge Feeding difficulties Dysphagia Abnormality of the skeletal system Dolichocephaly Pulmonic stenosis Thrombocytopenia Anemia Hyperpigmentation of the skin Osteoporosis Pneumonia Recurrent pneumonia Hypopigmentation of hair IgM deficiency Partial albinism Recurrent bronchopulmonary infections Flexion contracture Arthritis Osteolysis involving bones of the feet Ranula Corneal opacity Gingival overgrowth Rheumatoid arthritis Arthropathy Generalized osteoporosis Osteolysis involving bones of the upper limbs Narrow forehead Poor suck Telecanthus Stiff interphalangeal joints Absent thumb Aplasia/Hypoplasia of the radius Absent radius Patellar aplasia Patellar hypoplasia Aplasia/Hypoplasia of the patella Mottled pigmentation Micrognathia Narrow palpebral fissure Sensorineural hearing impairment Cataract Macrocephaly Frontal bossing Microphthalmia Posteriorly rotated ears Oxycephaly Short chin Hypoplasia of the radius Thickened helices Ventricular hypertrophy Spasticity Visual impairment Hypoplasia of the corpus callosum Hyperactivity Aggressive behavior Autistic behavior Dyskinesia Precocious puberty Joint dislocation Broad-based gait Cortical dysplasia Cleft palate High palate Diarrhea Blepharophimosis Long face High, narrow palate Cutaneous T-cell lymphoma



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Other signs and symptoms that you may find interesting

Ventricular septal defect and Decreased antibody level in blood, related diseases and genetic alterations Motor delay and Macrotia, related diseases and genetic alterations Wide nasal bridge and Apraxia, related diseases and genetic alterations Hydrocephalus and Abnormality of eye movement, related diseases and genetic alterations Muscle weakness and Congenital muscular dystrophy, related diseases and genetic alterations